“Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia”
Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S.
Epilepsia 2016 May 13.
In Am J Hum Genet.: Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders. Johnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, Boris Keren, Corentine Marie, Marion Lesieur-Sebellin, Delphine Heron, Jean-Madeleine de Sainte Agathe, Solveig Read more…